Results 81 to 90 of about 611,680 (333)

Topics of Interest in Women With Myeloproliferative Neoplasms

American Journal of Hematology, EarlyView.
Women with MPN: life‐cycle phases, specific risks, and influencing factors. ABSTRACT Overview Sex and gender have emerged as central modifiers of disease biology, phenotype, and clinical outcomes in myeloproliferative neoplasms (MPNs). This review will uniquely highlight issues affecting women with MPN and articulate their relevant determinants ...
Natasha Szuber, Paola Guglielmelli, Naseema Gangat   +2 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

The effects of coloring therapy on patients with generalized anxiety disorder

Animal Models and Experimental Medicine, Volume 5, Issue 6, Page 502-512, December 2022., 2022
After the intervention, there were statistical differences intra‐and‐inter group comparisons of anxiety, depression, and positive and negative mood scales in the experimental and control groups (p < .05). The minus in anxiety/positive emotions pre‐and‐post intervention in the experimental group was statistically significant compared to the minus in ...
Bosomtwe Samuel, Hongmei Wang, Chengdong Shi, Yongliang Pan, Yuzi Yu, Weiyu Zhu, Zhou Jing   +6 more
wiley   +1 more source

Factors shaping learning in clinical environments for healthcare professionals in low- and middle-income countries: a scoping review protocol. [PDF]

BMJ Open
Soosay Raj T, Noble C, Moreira DC, Gray AZ.   +3 more
europepmc   +1 more source

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy, Lide Han, Sandra Sanchez‐Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis   +5 more
wiley   +1 more source

In-hospital motor interventions to reduce neurodevelopmental impairment in preterm infants: a scoping review. [PDF]

Cochrane Database Syst Rev
Badura A, Fiander M, Gabriel A, Pirinu M, Beccani L, Soll RF, Cracknell J, Faas D, Wellmann S, Bruschettini M.   +9 more
europepmc   +1 more source